Epidermolysis bullosa (EB)

Epidermolysis bullosa (EB) is a general term used to describe a group of rare inherited skin disorders that cause the skin to become very fragile.

In people with EB, any trauma or friction to the skin can cause painful blisters.

Types of epidermolysis bullosa

There are three main types of EB, which are described below. The condition is classified according to where in the various layers of skin the blistering takes place.

Epidermolysis bullosa simplex (EBS), where blistering occurs in the upper layer of the skin (the epidermis). This is the most common type of EB, accounting for 70% of cases, and tends to be milder than the other types.

Dystrophic epidermolysis bullosa (DEB),where blistering occurs below the basement membrane zone in the upper part of the dermis. DEB accounts for around 25% of cases.

Junctional epidermolysis bullosa (JEB), where blistering occurs at the junction between the epidermis and the dermis (lower layer of the skin) in a layer of skin known as the basement membrane zone. JEB accounts for around 5% of cases and is usually considered the most severe type of EB.

There are many variants of these main types of EB, each with slightly different symptoms. So far, researchers have classified 27 variants of the condition and more may be identified in the future.

In most cases, symptoms of EB are obvious from birth or soon after. If it's suspected your child has the condition, they'll be referred to a skin specialist (dermatologist). The specialist will carry out tests to determine the type of EB and help to come up with a treatment plan.

Why does EB happen?

EB is caused by faulty genes. In most cases these are inherited from one or both parents but sometimes the fault occurs spontaneously.

In some cases, one or both parents will have the condition. However, there are many cases when neither parent has EB, but their child does. This happens when both parents are 'carriers' of the faulty genes.

If you or your partner is known to be a carrier of a mutated gene associated with EB, and there's a risk of your child developing a severe form of the condition, it's possible to test an unborn baby at about 11 weeks into pregnancy.

Outlook

The outlook for EB can vary widely depending on the type and variant of EB a child has.

Epidermolysis bullosa simplex (EBS) carries a low risk of causing serious complications. However, it can often be a frustrating condition to live with, as it can interfere with daily activities.

Some cases of dystrophic epidermolysis bullosa (DEB) are mild and cause no serious complications, while others are severe and may affect general health or possibly lead to skin cancer in later life.

The outlook for a very rare type of junctional epidermolysis bullosa (JEB-severe generalised) is poor. Around 40% of children with the condition will not survive the first year of life, and most will not survive more than five years.

Epidermolysis bullosa acquisita

Epidermolysis bullosa acquisita (EBA) is an acquired form of epidermolysis bullosa (EB), with similar symptoms.

Like EB, EBA causes the skin to blister easily. It can also affect the mouth, throat and digestive tract.

However, EBA is not inherited. EBA is an autoimmune disease which doesn't usually appear until later life. It's not known exactly what causes it.

EBA is more common in people over the age of 40, but overall it's a very rare condition.

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